Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1271744.RARQaV0N_OanZLnRyTuDdtRrBY9ZWR5d82UUGrR4SpGiA#assertion> ?p ?o ?g. }
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- assertion description "[Several patients shared the same mutation in NIPBL (p.R827GfsX2) but had variable phenotypes, indicating the influence of modifiers in CdLS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 20358602 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.